Mutagenetix > Incidental Mutation

Incidental Mutation 'R7286:Rad51ap2'

566034

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap2

Ensembl Gene

ENSMUSG00000086022

Gene Name

RAD51 associated protein 2

Synonyms

MMRRC Submission

045394-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11456079-11462928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11457691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 538 (T538I)

Ref Sequence

ENSEMBL: ENSMUSP00000128854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124065]

AlphaFold

G3UW63

Predicted Effect

probably benign
Transcript: ENSMUST00000124065
AA Change: T538I

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: T538I

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	428	438	N/A	INTRINSIC
low complexity region	702	713	N/A	INTRINSIC
Pfam:RAD51_interact	937	975	1.3e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,622,479 (GRCm38)	C130S	probably benign	Het
4921501E09Rik	T	C	17: 33,065,527 (GRCm38)	D767G	probably benign	Het
4930550C14Rik	A	T	9: 53,423,017 (GRCm38)	M187L	possibly damaging	Het
9930012K11Rik	T	C	14: 70,157,237 (GRCm38)	E156G	possibly damaging	Het
Acad9	C	T	3: 36,075,990 (GRCm38)	A194V	probably damaging	Het
Agps	T	A	2: 75,852,784 (GRCm38)	V151E	probably benign	Het
Ak9	A	T	10: 41,407,371 (GRCm38)	I1273L		Het
Akr1c19	T	A	13: 4,246,819 (GRCm38)	L288Q	probably damaging	Het
Carmil1	T	G	13: 24,013,394 (GRCm38)	D1353A	probably damaging	Het
Ccz1	T	A	5: 144,013,079 (GRCm38)	I43F	probably damaging	Het
Cep70	G	A	9: 99,275,585 (GRCm38)	C179Y	probably damaging	Het
Comt	A	T	16: 18,410,690 (GRCm38)	L196H	probably damaging	Het
Cspg5	A	T	9: 110,246,955 (GRCm38)	D253V	probably damaging	Het
Dars2	A	G	1: 161,046,808 (GRCm38)	V437A	possibly damaging	Het
Dcaf5	A	G	12: 80,348,390 (GRCm38)	I335T	probably damaging	Het
Ddn	T	C	15: 98,806,025 (GRCm38)	K462R	possibly damaging	Het
Dscaml1	T	C	9: 45,742,746 (GRCm38)		probably null	Het
Ethe1	A	G	7: 24,607,952 (GRCm38)	Y197C	probably damaging	Het
Evc	A	T	5: 37,322,183 (GRCm38)	L269*	probably null	Het
Fam161a	T	C	11: 23,020,001 (GRCm38)	S60P	possibly damaging	Het
Fam20b	A	G	1: 156,681,442 (GRCm38)	V400A	probably benign	Het
Fam53b	T	A	7: 132,759,661 (GRCm38)	S213C	possibly damaging	Het
Flot2	A	G	11: 78,054,786 (GRCm38)	I45V	probably benign	Het
Gemin4	A	C	11: 76,212,753 (GRCm38)	L394R	probably damaging	Het
Glis2	T	G	16: 4,611,318 (GRCm38)	S128R	possibly damaging	Het
Gm3696	A	G	14: 7,089,808 (GRCm38)	Y92H	probably damaging	Het
Gm49333	T	C	16: 20,632,591 (GRCm38)	S325P	probably benign	Het
Gpbp1l1	T	C	4: 116,590,245 (GRCm38)	V374A	probably benign	Het
Grm1	T	C	10: 10,689,696 (GRCm38)	N956S	probably benign	Het
Hbb-bh1	T	C	7: 103,843,031 (GRCm38)	E27G	probably damaging	Het
Hmcn1	A	T	1: 150,582,337 (GRCm38)	C5233S	probably damaging	Het
Hmgcr	C	T	13: 96,666,597 (GRCm38)	C30Y	probably damaging	Het
Hoxb6	A	G	11: 96,292,825 (GRCm38)		probably benign	Het
Igf2	T	C	7: 142,655,818 (GRCm38)	Q35R	possibly damaging	Het
Ighv1-4	C	T	12: 114,487,321 (GRCm38)	V56I	probably benign	Het
Kif13a	C	T	13: 46,752,455 (GRCm38)	V671M	possibly damaging	Het
Lmtk2	C	T	5: 144,174,360 (GRCm38)	Q633*	probably null	Het
Mesd	T	C	7: 83,895,749 (GRCm38)	Y136H	probably damaging	Het
Mga	T	A	2: 119,964,788 (GRCm38)	S2984R	possibly damaging	Het
Mkrn3	T	C	7: 62,418,927 (GRCm38)	N372S	probably benign	Het
Mtpap	A	G	18: 4,387,068 (GRCm38)	I373V	probably benign	Het
Mycbp2	G	A	14: 103,120,591 (GRCm38)	T4589M	probably damaging	Het
Myh2	A	G	11: 67,188,369 (GRCm38)	Q921R	probably benign	Het
Myom1	A	G	17: 71,045,549 (GRCm38)	D324G	possibly damaging	Het
Nat10	T	C	2: 103,754,169 (GRCm38)	K88E	probably benign	Het
Ncapd3	A	G	9: 27,069,958 (GRCm38)	R915G	probably damaging	Het
Nek4	T	C	14: 30,957,292 (GRCm38)	Y190H	probably damaging	Het
Nfasc	A	C	1: 132,602,052 (GRCm38)	Y797D	probably damaging	Het
Ngp	A	G	9: 110,420,910 (GRCm38)	D92G	probably benign	Het
Nos2	A	C	11: 78,929,854 (GRCm38)	H95P	probably damaging	Het
Nr3c1	ACGTC	ACGTCGTC	18: 39,486,460 (GRCm38)		probably benign	Het
Olfr1129	C	T	2: 87,575,519 (GRCm38)	T145I	probably benign	Het
Olfr1350	C	A	7: 6,570,716 (GRCm38)	H242N	probably damaging	Het
Olfr141	A	T	2: 86,806,623 (GRCm38)	H125Q	possibly damaging	Het
Olfr498	T	C	7: 108,465,435 (GRCm38)	I37T	possibly damaging	Het
Otogl	T	A	10: 107,770,610 (GRCm38)	D2154V	probably benign	Het
Pdss1	T	A	2: 22,935,641 (GRCm38)		probably null	Het
Pex5	A	T	6: 124,398,063 (GRCm38)	L609*	probably null	Het
Pglyrp4	C	A	3: 90,732,974 (GRCm38)	A177D	probably damaging	Het
Phactr4	A	G	4: 132,377,178 (GRCm38)		probably null	Het
Pik3cd	G	C	4: 149,659,714 (GRCm38)	N193K	probably benign	Het
Prr36	TACCTCTTC	T	8: 4,215,163 (GRCm38)		probably benign	Het
Prss38	A	T	11: 59,375,558 (GRCm38)	W25R	probably benign	Het
Prss8	T	A	7: 127,926,884 (GRCm38)	Q189L	probably damaging	Het
Psd	T	A	19: 46,314,801 (GRCm38)	D713V	probably damaging	Het
Rarres1	T	C	3: 67,515,184 (GRCm38)	T78A	probably benign	Het
Rbl2	G	T	8: 91,102,294 (GRCm38)	G651*	probably null	Het
Rev3l	A	T	10: 39,823,605 (GRCm38)	Q1366L	probably damaging	Het
Rundc1	T	C	11: 101,429,587 (GRCm38)	S215P	probably benign	Het
Scarf2	G	A	16: 17,802,973 (GRCm38)	W168*	probably null	Het
Sh2d7	A	G	9: 54,540,902 (GRCm38)	D69G	possibly damaging	Het
Slc26a4	A	T	12: 31,529,528 (GRCm38)	Y578*	probably null	Het
Slc2a9	A	T	5: 38,453,195 (GRCm38)	L87Q	probably damaging	Het
Slc39a10	A	T	1: 46,810,070 (GRCm38)	H795Q	probably damaging	Het
Spata13	C	T	14: 60,756,422 (GRCm38)	R1108W	probably damaging	Het
Sqle	T	C	15: 59,316,052 (GRCm38)	S70P	probably benign	Het
Syncrip	A	T	9: 88,464,663 (GRCm38)	F263I	probably damaging	Het
Synj2	T	C	17: 6,037,945 (GRCm38)	S1424P	possibly damaging	Het
Tax1bp3	A	T	11: 73,181,115 (GRCm38)	T89S	possibly damaging	Het
Tcaim	G	A	9: 122,819,027 (GRCm38)		probably null	Het
Tcp10c	T	C	17: 13,362,176 (GRCm38)	I240T	possibly damaging	Het
Ttll8	G	T	15: 88,917,239 (GRCm38)	N415K	probably benign	Het
Ugcg	T	C	4: 59,217,111 (GRCm38)	S212P	possibly damaging	Het
Vmn2r32	T	C	7: 7,479,808 (GRCm38)	K56E	probably benign	Het
Vmn2r55	T	C	7: 12,652,073 (GRCm38)	E660G	probably damaging	Het
Vmn2r7	T	C	3: 64,690,880 (GRCm38)	N752S	probably benign	Het
Vps54	T	A	11: 21,275,005 (GRCm38)	M167K	probably benign	Het
Vwa2	A	C	19: 56,909,359 (GRCm38)	M699L	probably benign	Het
Wdr59	A	G	8: 111,465,862 (GRCm38)	V689A		Het
Whamm	T	G	7: 81,586,247 (GRCm38)	N399K	probably damaging	Het
Zcchc6	T	C	13: 59,821,649 (GRCm38)	E144G	probably benign	Het
Zfp760	A	G	17: 21,722,779 (GRCm38)	K312E	probably benign	Het
Zkscan3	C	A	13: 21,394,813 (GRCm38)	V171L	probably benign	Het

Other mutations in Rad51ap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Rad51ap2	APN	12	11,458,138 (GRCm38)	missense	probably benign	0.10
IGL01908:Rad51ap2	APN	12	11,458,591 (GRCm38)	missense	probably damaging	1.00
IGL02415:Rad51ap2	APN	12	11,456,929 (GRCm38)	missense	possibly damaging	0.91
IGL02731:Rad51ap2	APN	12	11,456,896 (GRCm38)	missense	probably damaging	0.99
IGL03407:Rad51ap2	APN	12	11,457,197 (GRCm38)	missense	possibly damaging	0.96
R0190:Rad51ap2	UTSW	12	11,458,539 (GRCm38)	missense	probably benign	0.01
R0281:Rad51ap2	UTSW	12	11,457,042 (GRCm38)	missense	possibly damaging	0.93
R0564:Rad51ap2	UTSW	12	11,457,896 (GRCm38)	missense	probably benign	0.20
R0674:Rad51ap2	UTSW	12	11,458,817 (GRCm38)	critical splice donor site	probably null
R0699:Rad51ap2	UTSW	12	11,457,600 (GRCm38)	missense	probably benign	0.03
R1033:Rad51ap2	UTSW	12	11,456,251 (GRCm38)	missense	probably damaging	0.98
R1255:Rad51ap2	UTSW	12	11,458,094 (GRCm38)	missense	possibly damaging	0.54
R1572:Rad51ap2	UTSW	12	11,457,112 (GRCm38)	missense	probably damaging	0.99
R1746:Rad51ap2	UTSW	12	11,457,775 (GRCm38)	missense	probably benign
R1882:Rad51ap2	UTSW	12	11,456,250 (GRCm38)	missense	possibly damaging	0.85
R2038:Rad51ap2	UTSW	12	11,457,024 (GRCm38)	missense	possibly damaging	0.73
R2151:Rad51ap2	UTSW	12	11,457,985 (GRCm38)	missense	probably benign	0.02
R2152:Rad51ap2	UTSW	12	11,457,985 (GRCm38)	missense	probably benign	0.02
R2154:Rad51ap2	UTSW	12	11,457,985 (GRCm38)	missense	probably benign	0.02
R2159:Rad51ap2	UTSW	12	11,457,751 (GRCm38)	missense	possibly damaging	0.87
R2321:Rad51ap2	UTSW	12	11,457,057 (GRCm38)	missense	probably damaging	1.00
R2355:Rad51ap2	UTSW	12	11,457,108 (GRCm38)	missense	probably benign
R2393:Rad51ap2	UTSW	12	11,457,797 (GRCm38)	missense	probably damaging	0.98
R2407:Rad51ap2	UTSW	12	11,458,501 (GRCm38)	missense	probably damaging	0.99
R2518:Rad51ap2	UTSW	12	11,457,067 (GRCm38)	missense	probably damaging	0.99
R2929:Rad51ap2	UTSW	12	11,457,184 (GRCm38)	missense	probably benign	0.07
R3085:Rad51ap2	UTSW	12	11,456,757 (GRCm38)	missense	possibly damaging	0.53
R4009:Rad51ap2	UTSW	12	11,457,051 (GRCm38)	missense	probably benign	0.33
R4108:Rad51ap2	UTSW	12	11,458,395 (GRCm38)	missense	probably damaging	1.00
R4282:Rad51ap2	UTSW	12	11,456,464 (GRCm38)	missense	probably benign	0.01
R4536:Rad51ap2	UTSW	12	11,457,849 (GRCm38)	missense	possibly damaging	0.90
R4594:Rad51ap2	UTSW	12	11,457,880 (GRCm38)	missense	probably benign	0.01
R4678:Rad51ap2	UTSW	12	11,456,551 (GRCm38)	missense	probably damaging	0.96
R4679:Rad51ap2	UTSW	12	11,456,551 (GRCm38)	missense	probably damaging	0.96
R4810:Rad51ap2	UTSW	12	11,457,405 (GRCm38)	missense	probably damaging	1.00
R5151:Rad51ap2	UTSW	12	11,457,515 (GRCm38)	missense	probably benign	0.09
R5421:Rad51ap2	UTSW	12	11,459,367 (GRCm38)	nonsense	probably null
R5517:Rad51ap2	UTSW	12	11,458,312 (GRCm38)	missense	probably benign	0.19
R5786:Rad51ap2	UTSW	12	11,456,920 (GRCm38)	missense	probably damaging	1.00
R5884:Rad51ap2	UTSW	12	11,457,533 (GRCm38)	small deletion	probably benign
R5932:Rad51ap2	UTSW	12	11,458,386 (GRCm38)	missense	probably damaging	1.00
R6022:Rad51ap2	UTSW	12	11,458,522 (GRCm38)	missense	probably damaging	1.00
R6064:Rad51ap2	UTSW	12	11,457,417 (GRCm38)	missense	possibly damaging	0.80
R6112:Rad51ap2	UTSW	12	11,457,289 (GRCm38)	missense	probably benign	0.01
R6235:Rad51ap2	UTSW	12	11,457,516 (GRCm38)	missense	possibly damaging	0.70
R6282:Rad51ap2	UTSW	12	11,457,559 (GRCm38)	missense	probably benign	0.12
R6488:Rad51ap2	UTSW	12	11,458,160 (GRCm38)	missense	possibly damaging	0.56
R6668:Rad51ap2	UTSW	12	11,457,646 (GRCm38)	missense	probably benign	0.17
R6759:Rad51ap2	UTSW	12	11,457,144 (GRCm38)	missense	possibly damaging	0.91
R7030:Rad51ap2	UTSW	12	11,457,431 (GRCm38)	missense	possibly damaging	0.93
R7080:Rad51ap2	UTSW	12	11,456,365 (GRCm38)	missense	probably benign
R7105:Rad51ap2	UTSW	12	11,458,277 (GRCm38)	missense	possibly damaging	0.84
R7269:Rad51ap2	UTSW	12	11,456,806 (GRCm38)	missense	possibly damaging	0.67
R7305:Rad51ap2	UTSW	12	11,457,343 (GRCm38)	missense	possibly damaging	0.68
R7451:Rad51ap2	UTSW	12	11,457,981 (GRCm38)	missense	probably benign	0.05
R7632:Rad51ap2	UTSW	12	11,457,115 (GRCm38)	missense	possibly damaging	0.85
R7833:Rad51ap2	UTSW	12	11,456,655 (GRCm38)	missense	probably benign
R7839:Rad51ap2	UTSW	12	11,457,237 (GRCm38)	missense	possibly damaging	0.83
R7953:Rad51ap2	UTSW	12	11,462,592 (GRCm38)	nonsense	probably null
R8040:Rad51ap2	UTSW	12	11,458,791 (GRCm38)	missense	probably benign	0.03
R8879:Rad51ap2	UTSW	12	11,457,400 (GRCm38)	missense	possibly damaging	0.55
R8963:Rad51ap2	UTSW	12	11,456,254 (GRCm38)	missense	possibly damaging	0.91
R9010:Rad51ap2	UTSW	12	11,458,674 (GRCm38)	missense	probably benign	0.01
R9328:Rad51ap2	UTSW	12	11,457,771 (GRCm38)	missense	probably benign	0.03
R9691:Rad51ap2	UTSW	12	11,459,412 (GRCm38)	missense	possibly damaging	0.70
R9712:Rad51ap2	UTSW	12	11,457,592 (GRCm38)	missense	possibly damaging	0.95
RF023:Rad51ap2	UTSW	12	11,458,075 (GRCm38)	missense	possibly damaging	0.94
X0026:Rad51ap2	UTSW	12	11,458,096 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GAATCAGAAGAGGGATGCATTTTC -3'
(R):5'- ACAATGTGCACAGTTGTCTAAC -3'

Sequencing Primer
(F):5'- ACATGTTCTTCAACGGGT -3'
(R):5'- AAAGTGAATGGTCTTATGCTTCC -3'

Posted On

2019-06-26